Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.M549R

P3H1

266 papers

RefSeq Summary

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synt...

Pfam Domains

TPR_leprecanaa 34–348UCSCLeprecan family TPR-like repeat region
2OG-FeII_Oxy_3aa 575–677UCSC2OG-Fe(II) oxygenase superfamily

Gene Aliases

HGNC Name

prolyl 3-hydroxylase 1

HGNC Previous Symbol

LEPRE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022356.4
p.M549R
c.1646T>G
Surrounding Variants
5 papers
NM_022356.4
p.M549I
c.1647G>T
5 papers
NM_022356.4
p.M549I
c.1647G>C
5 papers
NM_022356.4
p.M549I
c.1647G>A
1 paper
NM_022356.4
p.R546W
c.1636C>T
5 papers
NM_022356.4
p.Y552*
c.1656C>G
6 papers
NM_022356.4
p.Y552*
c.1656C>A
1 paper
NM_022356.4
p.T542T
c.1626G>A
1 paper
NM_022356.4
p.T542M
c.1625C>T
2 papers
NM_022356.4
p.D556G
c.1667A>G
1 paper
NM_022356.4
p.P558S
c.1672C>T
1 paper
NM_022356.4
p.N540K
c.1620C>G
1 paper
NM_022356.4
p.N540K
c.1620C>A
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